Identity
HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
AQP0,CTRCT15,LIM1,MIP26,MP26
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4284
MIM: 154050
HGNC: 7103
Ensembl: ENSG00000135517
Variants:
dbSNP: 4284
ClinVar: 4284
TCGA: ENSG00000135517
COSMIC: MIP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000135517 | ENST00000652304 | P30301 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Aquaporin-mediated transport | REACTOME | R-HSA-445717 |
| Passive transport by Aquaporins | REACTOME | R-HSA-432047 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38032258 | 2024 | The role of phosphorylation in calmodulin-mediated gating of human AQP0. | 1 |
| 38153133 | 2024 | A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family. | 1 |
| 38451099 | 2024 | Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors. | 1 |
| 38032258 | 2024 | The role of phosphorylation in calmodulin-mediated gating of human AQP0. | 1 |
| 38153133 | 2024 | A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family. | 1 |
| 38451099 | 2024 | Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors. | 1 |
| 36734406 | 2023 | First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. | 0 |
| 36734406 | 2023 | First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. | 0 |
| 36360224 | 2022 | Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene. | 0 |
| 36360224 | 2022 | Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene. | 0 |
| 33957977 | 2021 | AQP0 is a novel surface marker for deciphering abnormal erythropoiesis. | 3 |
| 33957977 | 2021 | AQP0 is a novel surface marker for deciphering abnormal erythropoiesis. | 3 |
| 28836894 | 2018 | A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing. | 4 |
| 29695758 | 2018 | Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis. | 6 |
| 29947569 | 2018 | A novel MIP mutation in a Chinese family with congenital cataract. | 3 |
Citation
Dessen P
MIP (major intrinsic protein of lens fiber)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68994/mip-(major-intrinsic-protein-of-lens-fiber)
